Molecular basis for Duarte and Los Angeles variant galactosemia

American Journal of Human Genetics

Volumn 60, Issue 2, 1997, Pages 366-372

  Langley, S D ^a   Lai, K ^a   Dembure, P P ^a   Hjelm, L N ^a   Elsas, L J ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CHROMOSOME VARIANT; ENZYME ACTIVITY; GALACTOSEMIA; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LYMPHOBLAST; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; THERMOSTABILITY;

ALLELES; CELL LINE; CODON; ENZYME STABILITY; FEMALE; GALACTOSEMIAS; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN BIOSYNTHESIS; RNA, MESSENGER; TEMPERATURE; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; VARIATION (GENETICS);

EID: 0031029549     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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